Mutagenetix > Incidental Mutation

Incidental Mutation 'R5036:Cabyr'

389555

Institutional Source

Beutler Lab

Gene Symbol

Cabyr

Ensembl Gene

ENSMUSG00000024430

Gene Name

calcium binding tyrosine phosphorylation regulated

Synonyms

FSP-2, 1700016C01Rik, 4933421A18Rik, CBP86

MMRRC Submission

042627-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12874141-12888203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12884303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 263 (E263D)

Ref Sequence

ENSEMBL: ENSMUSP00000140894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000080415] [ENSMUST00000115857] [ENSMUST00000117361] [ENSMUST00000118313] [ENSMUST00000119043] [ENSMUST00000119108] [ENSMUST00000191078] [ENSMUST00000150758] [ENSMUST00000186263] [ENSMUST00000121018] [ENSMUST00000121774] [ENSMUST00000121808] [ENSMUST00000119512] [ENSMUST00000121888]

AlphaFold

Q9D424

Predicted Effect

probably benign
Transcript: ENSMUST00000074352

SMART Domains

Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
ANK	47	76	2.05e-6	SMART
ANK	80	109	1.29e-3	SMART
low complexity region	141	153	N/A	INTRINSIC
ANK	175	204	1.31e-4	SMART
PH	236	336	6.02e-8	SMART
low complexity region	345	354	N/A	INTRINSIC
coiled coil region	430	463	N/A	INTRINSIC
Pfam:Oxysterol_BP	548	940	6.7e-149	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000080415
AA Change: E263D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000079277
Gene: ENSMUSG00000024430
AA Change: E263D

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115857
AA Change: E263D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111523
Gene: ENSMUSG00000024430
AA Change: E263D

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.2e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117361

SMART Domains

Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118313

SMART Domains

Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119043

SMART Domains

Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119108

SMART Domains

Protein: ENSMUSP00000113760
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	8.5e-13	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000191078
AA Change: E263D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140894
Gene: ENSMUSG00000024430
AA Change: E263D

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000150758
AA Change: E263D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118330
Gene: ENSMUSG00000024430
AA Change: E263D

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000186263
AA Change: E263D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140870
Gene: ENSMUSG00000024430
AA Change: E263D

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121018

SMART Domains

Protein: ENSMUSP00000113131
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	6.7e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC
low complexity region	213	223	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121774

SMART Domains

Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	8	401	4e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121808

SMART Domains

Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119512

SMART Domains

Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
coiled coil region	38	71	N/A	INTRINSIC
Pfam:Oxysterol_BP	156	549	1.2e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121888

SMART Domains

Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Meta Mutation Damage Score

0.1125

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous knockout affects sperm flagellum morphology, resulting in reduced sperm motility. These mutant males are subfertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,275,578 (GRCm39)	G427D	possibly damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
C4b	T	A	17: 34,959,419 (GRCm39)		probably null	Het
Car1	A	T	3: 14,841,299 (GRCm39)	D45E	possibly damaging	Het
Col25a1	T	C	3: 130,376,978 (GRCm39)		probably null	Het
Dnah6	G	T	6: 73,021,674 (GRCm39)	S3549R	probably benign	Het
Dync1h1	A	T	12: 110,596,969 (GRCm39)	I1639F	probably damaging	Het
Fhad1	A	T	4: 141,648,052 (GRCm39)	D271E	probably benign	Het
Gle1	T	C	2: 29,826,223 (GRCm39)	S101P	probably benign	Het
Gm4781	C	A	10: 100,232,851 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,461 (GRCm39)	Y232C	probably damaging	Het
Gtf2ird2	A	G	5: 134,246,349 (GRCm39)	N869S	probably damaging	Het
Ifi204	G	A	1: 173,580,311 (GRCm39)	P400S	possibly damaging	Het
Ighv2-2	T	C	12: 113,552,092 (GRCm39)	T49A	possibly damaging	Het
Itsn1	T	A	16: 91,579,123 (GRCm39)		probably benign	Het
Mib2	A	T	4: 155,740,745 (GRCm39)	N626K	probably damaging	Het
Nf1	C	A	11: 79,337,690 (GRCm39)	Q1098K	probably damaging	Het
Odc1	C	A	12: 17,598,020 (GRCm39)	Q116K	probably damaging	Het
Otof	C	T	5: 30,541,783 (GRCm39)	E761K	possibly damaging	Het
Palld	A	T	8: 62,003,196 (GRCm39)	V301D	probably damaging	Het
Pask	A	T	1: 93,249,801 (GRCm39)	L533*	probably null	Het
Plekhh2	T	C	17: 84,879,189 (GRCm39)	S638P	probably damaging	Het
Scaf8	T	A	17: 3,214,537 (GRCm39)		probably benign	Het
Sdccag8	G	T	1: 176,839,541 (GRCm39)	R695L	probably damaging	Het
Serpina1c	A	G	12: 103,865,085 (GRCm39)	I187T	probably damaging	Het
Slitrk5	G	T	14: 111,918,316 (GRCm39)	G647W	possibly damaging	Het
Sycp1	T	A	3: 102,727,916 (GRCm39)	K899M	probably damaging	Het
Taok1	G	A	11: 77,440,157 (GRCm39)	R617C	probably benign	Het
Tbc1d32	A	C	10: 56,071,500 (GRCm39)	Y341*	probably null	Het
Tenm4	A	G	7: 96,343,997 (GRCm39)	N267D	probably damaging	Het
Tenm4	T	C	7: 96,501,768 (GRCm39)	V1287A	probably damaging	Het
Tsga10	A	T	1: 37,823,049 (GRCm39)	V488E	possibly damaging	Het
Ttc39c	G	T	18: 12,820,138 (GRCm39)		probably null	Het
Uck1	A	T	2: 32,148,478 (GRCm39)		probably benign	Het
Vmn2r98	A	G	17: 19,286,419 (GRCm39)	I306V	probably benign	Het

Other mutations in Cabyr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Cabyr	APN	18	12,877,667 (GRCm39)	missense	probably damaging	0.99
R0547:Cabyr	UTSW	18	12,884,073 (GRCm39)	missense	probably benign	0.07
R0571:Cabyr	UTSW	18	12,883,909 (GRCm39)	missense	probably damaging	1.00
R1556:Cabyr	UTSW	18	12,877,837 (GRCm39)	missense	probably damaging	1.00
R3084:Cabyr	UTSW	18	12,884,023 (GRCm39)	missense	probably damaging	1.00
R3085:Cabyr	UTSW	18	12,884,023 (GRCm39)	missense	probably damaging	1.00
R3086:Cabyr	UTSW	18	12,884,023 (GRCm39)	missense	probably damaging	1.00
R3824:Cabyr	UTSW	18	12,884,747 (GRCm39)	missense	probably benign	0.04
R3898:Cabyr	UTSW	18	12,884,580 (GRCm39)	missense	probably benign	0.00
R4869:Cabyr	UTSW	18	12,884,875 (GRCm39)	makesense	probably null
R4933:Cabyr	UTSW	18	12,877,549 (GRCm39)	splice site	probably benign
R5482:Cabyr	UTSW	18	12,884,496 (GRCm39)	missense	possibly damaging	0.95
R5932:Cabyr	UTSW	18	12,887,407 (GRCm39)	missense	probably damaging	1.00
R6515:Cabyr	UTSW	18	12,887,340 (GRCm39)	missense	possibly damaging	0.93
R6556:Cabyr	UTSW	18	12,884,073 (GRCm39)	missense	probably benign	0.07
R6852:Cabyr	UTSW	18	12,887,154 (GRCm39)	missense	probably benign	0.35
R6907:Cabyr	UTSW	18	12,883,969 (GRCm39)	missense	probably benign	0.05
R7193:Cabyr	UTSW	18	12,884,815 (GRCm39)	missense	probably damaging	1.00
R7565:Cabyr	UTSW	18	12,877,656 (GRCm39)	missense	possibly damaging	0.50
R7777:Cabyr	UTSW	18	12,877,828 (GRCm39)	missense	probably damaging	1.00
R7941:Cabyr	UTSW	18	12,877,825 (GRCm39)	missense	probably damaging	1.00
R8243:Cabyr	UTSW	18	12,883,759 (GRCm39)	missense	probably benign	0.00
R8406:Cabyr	UTSW	18	12,883,804 (GRCm39)	missense	probably benign	0.04
R8914:Cabyr	UTSW	18	12,884,077 (GRCm39)	missense	probably damaging	0.98
R9224:Cabyr	UTSW	18	12,887,278 (GRCm39)	missense	possibly damaging	0.64
R9635:Cabyr	UTSW	18	12,883,816 (GRCm39)	missense	probably damaging	1.00
R9697:Cabyr	UTSW	18	12,884,407 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TTTTAATGGTGGACGTGGCAAC -3'
(R):5'- GGTGGTGACTGCTCAATTTC -3'

Sequencing Primer
(F):5'- ACAAGTACGCCCGCTGTTC -3'
(R):5'- GGTGACTGCTCAATTTCTTTAACAC -3'

Posted On

2016-06-06